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Sea blue histiocytosis. A clinical cytologic and nosographic study on 23 cases

Meerblaue Histozytose. Eine klinisch-zytologische und nosographische Studie an 23 Fällen

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Zusammenfassung

An 23 Fällen sowie Daten der Literatur (etwa 40 Fälle) untersuchen die Autoren die hauptsächlichen klinischen, zytologischen und nosographischen Aspekte von Krankheitszuständen und Syndromen, die mit Sea-Blue Histiozytosis (SBH) einhergehen. Es müssen 3 Krankheitsformen von SBH unterschieden werden: hereditäre Erkrankungen; hereditär asymptomatische Form; erworbene und asymptomatische Form. Vom klinischen Standpunkt ist um die Hälfte weniger aller Fälle von SBH als hereditär einzustufen. Sie bieten ein Syndrom, welches auf Splenomegalie und periodischer haemorrhagischer Diathese (infolge wechselnder Thrompozytopenie) basiert und nicht selten mit Hepatomegalie und Veränderungen der Lungen oder des Nervensystems (häufig mit Beteiligung der Augen) einhergeht. Es gibt außerdem eine zweite hereditäre Form von SBH, welche sehr selten ist und sich klinisch von der ersten Form unterscheidet. Sie ist charakterisiert durch einen Mangel von Plasma-Lecithin-Cholesterin-Acetyltransferase.

Die speziellen Eigenschaften des SBH-Syndroms werden besprochen aufgrund licht- und elektronenmikroskopischer sowie zytochemischer Untersuchungen, welche das polymorphe Aussehen dieser „verhungerten“ Makrophagen betonen. Das in SBH-Zellen gespeicherte Material ist heterogen, und der enzymatische Defekt der häufigsten Form von SBH ist noch unbekannt. Der Befund von SBH-Zellen bei verschiedenen Bluterkrankungen hat eine analoge Bedeutung wie der Nachweis von Gaucher-Zellen, die außerhalb der Gaucher'schen Krankheit gefunden werden. Die Existenz von 2 definierten Formen von SBH kann heute nicht mehr bestritten werden.

Summary

The authors examine the main clinical, cytologic and nosographic aspects of conditions and syndromes associated with SBH on the basis of the literature data (about 40 cases) and 23 personal ones. It is necessary to distinguish between three nosological conditions of SBH: hereditary disease, hereditary asymptomatic, acquired per se asymptomatic. From the clinical viewpoint less a half of all SBH cases are hereditary and present a syndrome based on splenomegaly, periodic hemorrhagic diathesis (due to variable thrombocytopenia), not rarely associated with hepatomegaly and lung or nervous system changes (often eyes are involved). There is also a second SBH hereditary form, vary rare and clinically different from the former, determined by deficiency of plasma-lecitin-cholesterol acyltransferase.

The peculiar features of SBH are discussed by means of optical, cytochemical, electron microscopical investigations which point out the polymorphous aspect of these “famished” macrophages. The material stored by SBH is heterogeneous and the enzymatic defect of the most frequent form still remains obscure. The presence of SBH in different haemopathies has an analogous significance as Gaucher's cells found outside Gaucher's disease. It is impossible today to deny the existence of two well-identified SBHS.

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Authors and Affiliations

  1. Department of Haematology and Social Centre for Leukemias, Cardarelli Hospital, Naples, Italy

    N. Quattrin, L. De Rosa, S. Quattrin Jr. & A. Cecio

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  1. N. Quattrin
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  3. S. Quattrin Jr.
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  4. A. Cecio
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Quattrin, N., De Rosa, L., Quattrin, S. et al. Sea blue histiocytosis. A clinical cytologic and nosographic study on 23 cases. Klin Wochenschr 56, 17–30 (1978). https://doi.org/10.1007/BF01476739

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